Canonical Allele Identifier: CA1425984302

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355395_184355396delinsCA , CM000665.2:g.184355395_184355396delinsCA	GRCh38
NC_000003.11:g.184073183_184073184delinsCA , CM000665.1:g.184073183_184073184delinsCA	GRCh37
NC_000003.10:g.185555877_185555878delinsCA	NCBI36
NG_016422.1:g.11208_11209delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1304_1305delinsTG (CLCN2) MANE Select	ENSP00000265593.4:p.Leu435=
ENST00000475279.2:c.686_687delinsTG (CLCN2)
ENST00000636180.1:c.*280_*281delinsTG (CLCN2)	ENSP00000490374.1:n.*280_*281delinsTG
ENST00000636241.1:c.1195_1196delinsTG (CLCN2)
ENST00000636492.1:c.1187_1188delinsTG (CLCN2)	ENSP00000490313.1:p.Leu396=
ENST00000636658.1:c.565_566delinsTG (CLCN2)
ENST00000636661.1:c.*1494_*1495delinsTG (CLCN2)	ENSP00000490764.1:n.*1494_*1495delinsTG
ENST00000637392.1:n.2580_2581delinsTG (CLCN2)
ENST00000637538.1:c.610_611delinsTG (CLCN2)
ENST00000637909.1:c.1110_1111delinsTG (CLCN2)
ENST00000638134.1:c.1112_1113delinsTG (CLCN2)
ENST00000265593.8:c.1304_1305delinsTG (CLCN2)	ENSP00000265593.4:p.Leu435=
ENST00000344937.11:c.1304_1305delinsTG (CLCN2)	ENSP00000345056.7:p.Leu435=
ENST00000430397.5:c.247_248delinsTG (CLCN2)
ENST00000434054.6:c.1172_1173delinsTG (CLCN2)	ENSP00000400425.2:p.Leu391=
ENST00000444495.1:c.2106+210688_2106+210689delinsCA (EIF2B5)	ENSP00000409142.1:n.2106+210688_2106+210689delinsCA
ENST00000457512.1:c.1304_1305delinsTG (CLCN2)	ENSP00000391928.1:p.Leu435=
ENST00000485667.1:n.1311_1312delinsTG (CLCN2)
NM_001171087.2:c.1304_1305delinsTG (CLCN2)	NP_001164558.1:p.Leu435=
NM_001171088.2:c.1172_1173delinsTG (CLCN2)	NP_001164559.1:p.Leu391=
NM_001171089.2:c.1304_1305delinsTG (CLCN2)	NP_001164560.1:p.Leu435=
NM_004366.5:c.1304_1305delinsTG (CLCN2)	NP_004357.3:p.Leu435=
XM_006713489.1:c.1304_1305delinsTG (CLCN2)	XP_006713552.1:p.Leu435=
XM_006713490.1:c.146_147delinsTG (CLCN2)	XP_006713553.1:p.Leu49=
XM_011512401.1:c.1304_1305delinsTG (CLCN2)	XP_011510703.1:p.Leu435=
XM_011512402.1:c.1304_1305delinsTG (CLCN2)	XP_011510704.1:p.Leu435=
XM_006713490.2:c.146_147delinsTG (CLCN2)	XP_006713553.1:p.Leu49=
XR_001740001.1:n.1428_1429delinsTG (CLCN2)
XR_001740002.1:n.1428_1429delinsTG (CLCN2)
NM_004366.6:c.1304_1305delinsTG (CLCN2) MANE Select	NP_004357.3:p.Leu435=
NM_001171087.3:c.1304_1305delinsTG (CLCN2)	NP_001164558.1:p.Leu435=
NM_001171088.3:c.1172_1173delinsTG (CLCN2)	NP_001164559.1:p.Leu391=
NM_001171089.3:c.1304_1305delinsTG (CLCN2)	NP_001164560.1:p.Leu435=